Canonical Allele Identifier: CA371790727

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 859539
• ClinVar RCV Id: RCV001065674
• dbSNP Id: rs1318142770
• gnomAD v2: 8-100874156-C-A
• gnomAD v4: 8-99861928-C-A
• MyVariant Identifiers: chr8:g.100874156C>A (hg19) ; chr8:g.99861928C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861928C>A , CM000670.2:g.99861928C>A	GRCh38
NC_000008.10:g.100874156C>A , CM000670.1:g.100874156C>A	GRCh37
NC_000008.9:g.100943332C>A	NCBI36
NG_007098.2:g.853663C>A , LRG_351:g.853663C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*366C>A	ENSP00000507923.1:n.*366C>A
ENST00000682358.1:n.11342C>A
ENST00000683334.1:c.*6954C>A	ENSP00000507369.1:n.*6954C>A
ENST00000357162.7:c.11197C>A MANE Select	ENSP00000349685.2:p.Leu3733Met
ENST00000358544.7:c.11272C>A MANE Plus Clinical	ENSP00000351346.2:p.Leu3758Met
ENST00000357162.6:c.11197C>A	ENSP00000349685.2:p.Leu3733Met
ENST00000358544.6:c.11272C>A	ENSP00000351346.2:p.Leu3758Met
NM_017890.4:c.11272C>A , LRG_351t1:c.11272C>A	NP_060360.3:p.Leu3758Met
NM_152564.4:c.11197C>A , LRG_351t2:c.11197C>A	NP_689777.3:p.Leu3733Met
XM_005250800.2:c.11272C>A	XP_005250857.1:p.Leu3758Met
XM_005250801.3:c.11272C>A	XP_005250858.1:p.Leu3758Met
XM_011516848.1:c.11269C>A	XP_011515150.1:p.Leu3757Met
XM_011516849.1:c.11194C>A	XP_011515151.1:p.Leu3732Met
XM_011516850.1:c.10894C>A	XP_011515152.1:p.Leu3632Met
XM_011516851.1:c.8158C>A	XP_011515153.1:p.Leu2720Met
XM_011516852.1:c.8158C>A	XP_011515154.1:p.Leu2720Met
XM_011516854.1:c.7051C>A	XP_011515156.1:p.Leu2351Met
XM_005250800.3:c.11272C>A	XP_005250857.1:p.Leu3758Met
XM_005250801.5:c.11272C>A	XP_005250858.1:p.Leu3758Met
XM_011516848.2:c.11269C>A	XP_011515150.1:p.Leu3757Met
XM_011516849.2:c.11194C>A	XP_011515151.1:p.Leu3732Met
XM_011516850.2:c.10894C>A	XP_011515152.1:p.Leu3632Met
XM_011516851.2:c.8158C>A	XP_011515153.1:p.Leu2720Met
XM_011516852.2:c.8158C>A	XP_011515154.1:p.Leu2720Met
XM_011516854.2:c.7051C>A	XP_011515156.1:p.Leu2351Met
XM_017013109.1:c.11077C>A	XP_016868598.1:p.Leu3693Met
XM_017013111.1:c.8158C>A	XP_016868600.1:p.Leu2720Met
XM_017013112.1:c.6829C>A	XP_016868601.1:p.Leu2277Met
XM_024447074.1:c.10057C>A	XP_024302842.1:p.Leu3353Met
NM_017890.5:c.11272C>A MANE Plus Clinical	NP_060360.3:p.Leu3758Met
NM_152564.5:c.11197C>A MANE Select	NP_689777.3:p.Leu3733Met